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Article

Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

The pharmacogenomics journal - 1 Jan 2002

Hu G, Modrek B, Riise Stensland H M F, Saarela J, Pajukanta P, Kustanovich V, Peltonen L, Nelson S F, Lee C

Abstract excerpt

Single nucleotide polymorphisms in protein coding regions (cSNPs) are of great interest for their effects on phenotype and potential for mapping disease genes. We have identified 5,400 novel exonic SNPs from alignments of public EST data to the draft human genome sequence, and approximately 12,000 more novel exonic SNPs from EST cluster alignments. We found 82% of the genomic-aligned SNPs and 63% of the EST-only...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 12196912
DOI: 10.1038/sj.tpj.6500109

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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